Silver-Russell syndrome (SRS) is a rare genetic disorder that combines intrauterine growth retardation, facial dysmorphia, and limb asymmetry. We report the case of a patient diagnosed with SRS on a cluster of clinical arguments, associated with thyroid dysgenesis. We report the case of a 16-year-old patient diagnosed with SRS based on the following clinical findings: hypotrophy at birth, severe stature-ponderal delay (-4DS), hemihypertrophy of the body, macrocephaly, and prominent forehead with severe psychomotor and intellectual delay (IQ < 70). The Netchine-Harbison score is rated at 6/6, hence the performance of a molecular study, the results of which are in progress. Biological and radiological exploration has objectified deep hypothyroidism on a sublingual thyroid for which he was treated with a hormone replacement therapy with L-thyroxine. This association has never been reported in the literature. We report through this case the interest in a morphological assessment in search of other anomalies, which can be associated to improve the management of SRS.
IntroductionAn adrenal incidentaloma (AI) is an unsuspected tumor in one or both adrenal glands, which is discovered incidentally on an imaging exam not prompted by adrenal exploration. The etiologies can be multiple; they condition therapeutic management. The objective of our study is to describe the etiological and therapeutic profiles of AI in our department.
Testicular agenesis, also called testicular regression syndrome (TRS), is a rare disease. It is defined by the complete absence of testicular tissue associated with a 46,XY karyotype. The phenotype is variable depending on when gonadal regression occurs in utero. Several etiologies have been identified. Here, we report two cases of TRS with an initial diagnosis of cryptorchidism and bilateral impalpable testes. The hormonal assessment showed an undetectable anti-Müllerian hormone (AMH) level and high gonadotropins. Also, radiological exploration did not show the testicles in a normal position, which was confirmed by a negative laparoscopy, establishing the diagnosis of TRS. Androgen replacement therapy along with psychological support to the patient is recommended is such cases.
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